Re-evaluation of putative rheumatoid arthritis susceptibility genes in the post-genome wide association study era and hypothesis of a key pathway underlying susceptibility

Human Molecular Genetics

Volumn 17, Issue 15, 2008, Pages 2274-2279

  Barton, Anne ^a   Thomson, Wendy ^a   Ke, Xiayi ^a   Eyre, Steve ^a   Hinks, Anne ^a   Bowes, John ^a   Gibbons, Laura ^a   Plant, Darren ^a   Wilson, Anthony G ^b   Marinou, Ioanna ^b   Morgan, Ann ^c   Emery, Paul ^c   Steer, Sophia ^d   Hocking, Lynne ^e   Reid, David M ^e   Wordsworth, Paul ^f   Harrison, Pille ^f   Worthington, Jane ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b UNIVERSITY OF SHEFFIELD   (United Kingdom)

^c CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^d KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^e UNIVERSITY OF ABERDEEN   (United Kingdom)

^f UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC CITRULLINATED PEPTIDE ANTIBODY; DNA; STAT4 PROTEIN; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 1;

ACCURACY; ARTICLE; AUTOIMMUNE DISEASE; CASE CONTROL STUDY; CAUCASIAN; COHORT ANALYSIS; CONTROLLED STUDY; EFFECT SIZE; ENVIRONMENTAL FACTOR; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HEREDITY; HUMAN; HUMAN CELL; HYPOTHESIS; MAJOR CLINICAL STUDY; PATHOGENESIS; PRIORITY JOURNAL; RHEUMATOID ARTHRITIS; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED KINGDOM;

EID: 46249101392     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn128     Document Type: Article

References (21)

1. Symmons, D., Turner, G., Webb, R., Asten, P., Barrett, E., Lunt, M., Scott, D. and Silman, A. (2002) The prevalence of rheumatoid arthritis in the United Kingdom: New estimates for a new century. Rheumatology (Oxford), 41, 793-800.
2. MacGregor, A.J., Snieder, H., Rigby, A.S., Koskenvuo, M., Kaprio, J., Aho, K. and Silman, A.J. (2000) Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins. Arthritis Rheum., 43, 30-37.
3. Gregersen, P.K., Silver, J. and Winchester, R.J. (1987) The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis. Arthritis Rheum., 30 1205-1213.
4. Hinks, A., Worthington, J. and Thomson, W. (2006) The association of PTPN22 with rheumatoid arthritis and juvenile idiopathic arthritis. Rheumatology (Oxford), 45, 365-368.
5. Ikari, K., Momohara, S., Inoue, E., Tomatsu, T., Hara, M., Yamanaka, H. and Kamatani, N. (2006) Haplotype analysis revealed no association between the PTPN22 gene and RA in a Japanese population. Rheumatology (Oxford), 45, 1345-1348.
6. Welcome Trust Case Control Consortium. (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3000 shared controls. Nature, 447, 661-678.
7. Thomson, W., Barton, A., Ke, X., Eyre, S., Hinks, A., Bowes, J., Donn, R., Symmons, D., Hider, S., Bruce, I.N. et al. (2007) Rheumatoid arthritis association at 6q23. Nat. Genet., 39, 1431-1433.
8. Plenge, R.M., Cotsapas, C., Davies, L., Price, A.L., de Bakker, P.I., Maller, J., Pe'er, I., Burtt, N.P., Blumenstiel, B., Defelice, M. et al. (2007) Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat. Genet., 39, 1477-1482.
9. Kurreeman, F.A., Padyukov, L., Marques, R.B., Schrodi, S.J., Seddighzadeh, M., Stoeken-Rijsbergen, G., van der Helm-van Mil, A.H., Allaart, C.F., Verduyn, W., Houwing-Duistermaat, J. et al. (2007) A candidate gene approach identifies the TRAF1/C5 region as a risk factor for rheumatoid arthritis. PLoS Med., 4, e278.
10. Plenge, R.M., Seielstad, M., Padyukov, L., Lee, A.T., Remmers, E.F., Ding, B., Liew, A., Khalili, H., Chandrasekaran, A., Davies, L.R. et al. (2007) TRAF1-C5 as a risk locus for rheumatoid arthritis - a genomewide study. N. Engl. J. Med., 357, 1199-1209.
11. Remmers, E.F., Plenge, R.M., Lee, A.T., Graham, R.R., Hom, G., Behrens, T.W., de Bakker, P.I., Le, J.M., Lee, H.S., Batliwalla, F. et al. (2007) STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N. Engl. J. Med., 357, 977-986.
12. Lee, H.S., Remmers, E.F., Le, J.M., Kastner, D.L., Bae, S.C. and Gregersen, P.K. (2007) Association of STAT4 with rheumatoid arthritis in the Korean population. Mol. Med., 13, 455-460.
13. van der Helm-van Mil, A.H., Huizinga, T.W., de Vries, R.R. and Toes, R.E. (2007) Emerging patterns of risk factor make-up enable subclassification of rheumatoid arthritis. Arthritis Rheum., 56 1728-1735.
14. Begovich, A.B., Carlton, V.E., Honigberg, L.A., Schrodi, S.J., Chokkalingam, A.P., Alexander, H.C., Ardlie, K.G., Huang, Q., Smith, A.M., Spoerke, J.M. et al. (2004) A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am. J. Hum. Genet., 75 330-337.
15. Wesoly, J., Hu, X., Thabet, M.M., Chang, M., Uh, H., Allaart, C.F., Toes, R.E., Houwing-Duistermaat, J.J., Begovich, A.B. and Huizinga, T.W. (2007) The 620W allele is the PTPN22 genetic variant conferring susceptibility to RA in a Dutch population. Rheumatology (Oxford), 46, 617-621.
16. Vang, T., Congia, M., Macis, M.D., Musumeci, L., Orru, V., Zavattari, P., Nika, K., Tautz, L., Tasken, K., Cucca, F. et al. (2005) Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat. Genet., 37, 1317-1319.
17. Klareskog, L., Stolt, P., Lundberg, K., Kallberg, H., Bengtsson, C., Grunewald, J., Ronnelid, J., Harris, H.E., Ulfgren, A.K., Rantapaa-Dahlqvist, S. et al. (2006) A new model for an etiology of rheumatoid arthritis: Smoking may trigger HLA-DR (shared epitope)-restricted immune reactions to autoantigens modified by citrullination. Arthritis Rheum., 54, 38-46.
18. Hill, J.A., Southwood, S., Sette, A., Jevnikar, A.M., Bell, D.A. and Cairns, E. (2003) Cutting edge: The conversion of arginine to citrulline allows for a high-affinity peptide interaction with the rheumatoid arthritis-associated HLA-DRB1*0401 MHC class II molecule. J. Immunol., 171, 538-541.
19. Becskei, A. and Grusby, M.J. (2007) Contribution of IL-12R mediated feedback loop to Th1 cell differentiation. FEBS Lett., 581, 5199-5206.
20. Song, H.Y., Rothe, M. and Goeddel, D.V. (1996) The tumor necrosis factor-inducible zinc finger protein A20 interacts with TRAF1/TRAF2 and inhibits NF-kappaB activation. Proc. Natl Acad. Sci. USA, 93 6721-6725.
21. Marchini, J., Howie, B., Myers, S., McVean, G. and Donnelly, P. (2007) A new multipoint method for genome-wide association studies by imputation of genotypes. Nat. Genet., 39, 906-913.